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ONTOLOGY REPORT - ANNOTATIONS


Term:palmoplantar keratoderma-esophageal carcinoma syndrome
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Accession:DOID:0111506 term browser browse the term
Definition:An autosomal dominant disease characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: Bennion-Patterson syndrome;   Howell Evans syndrome;   Keratosis Palmaris Et Plantaris With Esophageal Cancer;   Keratosis Palmoplantaris with Esophageal Cancer;   PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;   TOC;   Tylosis with esophageal cancer;   keratosis palmoplantaris-esophageal carcinoma syndrome;   palmoplantar hyperkeratosis-esophageal carcinoma syndrome;   tylosis-oesophageal carcinoma syndrome
 primary_id: MESH:C536164
 alt_id: DOID:9008624;   OMIM:148500
 xref: GARD:3102;   ORDO:2198
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palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link 10 105,573,759 105,600,885 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    sensory system disease 4596
      skin disease 2462
        Genetic Skin Diseases 760
          palmoplantar keratosis 28
            palmoplantar keratoderma-esophageal carcinoma syndrome 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          skin disease 2462
            keratosis 127
              palmoplantar keratosis 28
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.